Linked Data
dbSNP Id:
rs11078884
gnomAD v2:
17-2145193-T-C
gnomAD v3:
17-2241899-T-C
gnomAD v4:
17-2241899-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2241899T>C , CM000679.2:g.2241899T>C | GRCh38 |
| NC_000017.10:g.2145193T>C , CM000679.1:g.2145193T>C | GRCh37 |
| NC_000017.9:g.2091943T>C | NCBI36 |
| NG_033980.1:g.66877A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263073.11:c.2723+2759A>G MANE Select | ENSP00000263073.5:n.2723+2759A>G | |
| ENST00000263073.10:c.2723+2759A>G | ENSP00000263073.5:n.2723+2759A>G | |
| ENST00000354901.8:c.-2+2759A>G | ENSP00000346977.4:n.-2+2759A>G | |
| ENST00000570606.5:c.-1-5262A>G | ENSP00000460191.1:n.-1-5262A>G | |
| ENST00000570659.5:c.-2+2759A>G | ENSP00000460898.1:n.-2+2759A>G | |
| NM_001256827.1:c.-2+2759A>G | NP_001243756.1:n.-2+2759A>G | |
| NM_017575.4:c.2723+2759A>G | NP_060045.4:n.2723+2759A>G | |
| XM_005256569.2:c.2630+2759A>G | XP_005256626.1:n.2630+2759A>G | |
| XM_011523769.1:c.2630+2759A>G | XP_011522071.1:n.2630+2759A>G | |
| XM_011523770.1:c.2630+2759A>G | XP_011522072.1:n.2630+2759A>G | |
| XM_011523771.1:c.2723+2759A>G | XP_011522073.1:n.2723+2759A>G | |
| XM_011523772.1:c.2723+2759A>G | XP_011522074.1:n.2723+2759A>G | |
| XM_011523775.1:c.-2+2759A>G | XP_011522077.1:n.-2+2759A>G | |
| XM_005256569.4:c.2630+2759A>G | XP_005256626.1:n.2630+2759A>G | |
| XM_011523769.2:c.2630+2759A>G | XP_011522071.1:n.2630+2759A>G | |
| XM_011523772.2:c.2723+2759A>G | XP_011522074.1:n.2723+2759A>G | |
| XM_011523775.2:c.-2+2759A>G | XP_011522077.1:n.-2+2759A>G | |
| XM_017024398.1:c.2724-907A>G | XP_016879887.1:n.2724-907A>G | |
| XM_017024399.2:c.-2+2759A>G | XP_016879888.1:n.-2+2759A>G | |
| XM_024450681.1:c.2630+2759A>G | XP_024306449.1:n.2630+2759A>G | |
| XR_001752459.1:n.2986+2759A>G | ||
| NM_017575.5:c.2723+2759A>G MANE Select | NP_060045.4:n.2723+2759A>G | |
| NM_001256827.2:c.-2+2759A>G | NP_001243756.1:n.-2+2759A>G |